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Publications for Abbs, S

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Number of items: 3.


Maggi, L; Scoto, M; Cirak, S; Robb, S A; Klein, A; Lillis, S; Cullup, T; Feng, L; Manzur, A Y; Sewry, C A; Abbs, S; Jungbluth, H; Muntoni, F (2013). Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscular Disorders : NMD, 23(3):195-205.


Klein, Andrea; Lillis, Suzanne; Munteanu, Iulia; Scoto, Mariacristina; Zhou, Haiyan; Quinlivan, Ros; Straub, Volker; Manzur, Adnan Y; Roper, Helen; Jeannet, Pierre-Yves; Rakowicz, Wojtek; Jones, David Hilton; Jensen, Uffe Birk; Wraige, Elizabeth; Trump, Natalie; Schara, Ulrike; Lochmuller, Hanns; Sarkozy, Anna; Kingston, Helen; Norwood, Fiona; Damian, Maxwell; Kirschner, Janbernd; Longman, Cheryl; Roberts, Mark; Auer-Grumbach, Michaela; Hughes, Imelda; Bushby, Kate; Sewry, Caroline; Robb, Stephanie; Abbs, Stephen; Jungbluth, Heinz; Muntoni, Francesco (2012). Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Human Mutation, 33(6):981-988.


Clement, E; Mercuri, E; Godfrey, C; Smith, J; Robb, S; Kinali, M; Straub, V; Bushby, K; Manzur, A; Talim, B; Cowan, F; Quinlivan, R; Klein, A; Longman, C; McWilliam, R; Topaloglu, H; Mein, R; Abbs, S; North, K; Barkovich, A J; Rutherford, M; Muntoni, F (2008). Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Annals of Neurology, 64(5):573-582.

This list was generated on Mon Sep 16 18:26:31 2019 CEST.